" /> Xfe progeroid syndrome - CISMeF





Preferred Label : Xfe progeroid syndrome;

Symbol : XFEPS;

CISMeF acronym : XFEPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xpf-ercc1 progeroid syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 4 gene (ERCC4, 133520.0003);

Neoplasia : No evidence of skin cancer;

Laboratory abnormalities : Fibroblasts showed reduced levels of UV_induced DNA damage repair ( 5% normal);

Prefixed ID : #610965;

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27/07/2025


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